PDF(Pubmed)
Abstract：
Retinitis pigmentosa is a group of genetically determined retinal dystrophies characterized by primary photoreceptor apoptosis and can occur in isolated or syndromic conditions. This study reviewed the clinical data of 15 patients with syndromic retinitis pigmentosa from a Rare Disease Reference Center in Brazil and the results of their next-generation sequencing tests. Five males and ten females participated, with the mean ages for ocular disease onset, fundoscopic diagnosis, and molecular evaluation being 9, 19, and 29 years, respectively. Bardet-Biedl syndrome (n = 5) and Usher syndrome (n = 3) were the most frequent diagnoses, followed by other rare conditions. Among the patients, fourteen completed molecular studies, with three negative results and eleven revealing findings in known genes, including novel variants in MKKS (c.432_435del, p.Phe144Leufs*14), USH2A (c.(7301+1_7302-1)_(9369+1_9370-1)del), and CEP250 (c.5383dup, p.Glu1795Glyfs*13, and c.5050del, p.Asp1684Thrfs*9). Except for Kearn-Sayre, all presented an autosomal recessive inheritance pattern with 64% homozygosity results. The long gap between symptom onset and diagnosis highlights the diagnostic challenges faced by the patients. This study reaffirms the clinical heterogeneity of syndromic retinitis pigmentosa and underscores the pivotal role of molecular analysis in advancing our understanding of these diseases.
摘要：
色素性视网膜炎是一组遗传决定的视网膜营养不良，其特征在于原发性光感受器凋亡，并且可以在孤立或综合症条件下发生。这项研究回顾了来自巴西罕见疾病参考中心的15名综合征性视网膜色素变性患者的临床数据以及他们的下一代测序测试结果。五名男性和十名女性参加，眼病发病的平均年龄，眼底镜诊断,分子评估为9、19和29年，分别。Bardet-Biedl综合征（n=5）和Usher综合征（n=3）是最常见的诊断，其次是其他罕见的情况。在患者中,14个完成的分子研究，在已知基因中有3个阴性结果和11个揭示的发现，包括MKKS中的新变体(c.432_435del，p.Phe144Leufs*14)，USH2A（c。(7301+1_7302-1)_(9369+1_9370-1)del)，和CEP250(c.5383dup，p.Glu1795Glyfs*13，和c.5050del，p.Asp1684Thrfs*9)。除了Kearn-Sayre,均呈现常染色体隐性遗传模式,纯合性结果为64%.症状发作和诊断之间的长期差距凸显了患者面临的诊断挑战。这项研究重申了综合征性视网膜色素变性的临床异质性，并强调了分子分析在促进我们对这些疾病的理解中的关键作用。
